Incidental Mutation 'IGL01975:Erlin1'
| ID |
182642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Erlin1
|
| Ensembl Gene |
ENSMUSG00000025198 |
| Gene Name |
ER lipid raft associated 1 |
| Synonyms |
Spfh1, Keo4, 2810439N09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44023383-44058224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44025370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 348
(G348V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071698]
[ENSMUST00000112028]
[ENSMUST00000170801]
|
| AlphaFold |
Q91X78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071698
AA Change: G348V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: G348V
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112028
AA Change: G348V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: G348V
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170801
AA Change: G348V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: G348V
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
| Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
| Csf2rb2 |
A |
G |
15: 78,173,086 (GRCm39) |
I258T |
probably benign |
Het |
| Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
| Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
| Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
| Gpr75 |
T |
C |
11: 30,841,835 (GRCm39) |
S247P |
probably benign |
Het |
| Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
| Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
| Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
| Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
| Ldlr |
G |
A |
9: 21,644,993 (GRCm39) |
V174I |
probably benign |
Het |
| Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,141,559 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,396,149 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
| Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
| Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
| Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
probably benign |
Het |
|
| Other mutations in Erlin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Erlin1
|
APN |
19 |
44,057,758 (GRCm39) |
nonsense |
probably null |
|
|
IGL00551:Erlin1
|
APN |
19 |
44,047,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02171:Erlin1
|
APN |
19 |
44,037,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL02525:Erlin1
|
APN |
19 |
44,027,634 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02669:Erlin1
|
APN |
19 |
44,027,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Erlin1
|
APN |
19 |
44,051,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Erlin1
|
UTSW |
19 |
44,036,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Erlin1
|
UTSW |
19 |
44,037,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Erlin1
|
UTSW |
19 |
44,056,056 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4584:Erlin1
|
UTSW |
19 |
44,057,758 (GRCm39) |
nonsense |
probably null |
|
|
R4607:Erlin1
|
UTSW |
19 |
44,051,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Erlin1
|
UTSW |
19 |
44,029,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Erlin1
|
UTSW |
19 |
44,057,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4652:Erlin1
|
UTSW |
19 |
44,029,231 (GRCm39) |
nonsense |
probably null |
|
|
R6550:Erlin1
|
UTSW |
19 |
44,025,602 (GRCm39) |
splice site |
probably null |
|
|
R7320:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Erlin1
|
UTSW |
19 |
44,044,598 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8171:Erlin1
|
UTSW |
19 |
44,057,768 (GRCm39) |
missense |
probably benign |
|
|
R8519:Erlin1
|
UTSW |
19 |
44,058,041 (GRCm39) |
unclassified |
probably benign |
|
|
R9223:Erlin1
|
UTSW |
19 |
44,029,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation